Ashkenazi Jews, panel 2 (CFTR, HexA, ASPA, GBA, IKBKAP, GJB2, PCDH15, NEB, SMPD1, FANCC, BLM, BCKDHB, SERPINA1, MCOLN1, G6PC) screening, total blood

Erased test

Effective update from 07/11/2018

Test code: 

1467- Ashkenazi Jews, panel 1 (CFTR, HexA, ASPA, GBA, IKBKAP) screening, total blood
3814- Ashkenazi Jews, panel 2 (CFTR, HexA, ASPA, GBA, IKBKAP, GJB2, PCDH15, NEB, SMPD1, FANCC, BLM, BCKDHB, SERPINA1, MCOLN1, G6PC) screening, total blood

Alternative test:

7957- ASHKENAZI JEWISH, CARRIER SCREENING - PANEL - NGS


Genes studied: PHGDH, MTP, COL4A3, COL4A4, COL4A5, BBS2, BLM, ASPA, CPT2, VPS13A, MPL, PMM2, CFTR, LOXHD1, RTEL1, ADAMTS2, NR2E3, F11, IKBKAP, LDLR, ABCC8, MEFV,  FANCC, GALT, GBA, G6PC, GAA, GBE1, PFKM, HPS3, TMEM216, DLD, BCKDHB, NDUFS6, MCOLN1, SUMF1, NEB, SMPD1, GJB2, TCIRG1, PAH, PKHD1, AIRE, DNAH5, DNAI1, DNAI2, HOGA1, FAM161A, DHDDS, DHCR7, HEXA, FAH, PCDH15, CLRN1, FKTN, ATP7B, PEX2

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